A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575239



Internal ID18356751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44923931..44927153hg38UCSC Ensembl
Innerchr2:45151070..45154292hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383223
hg193223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9822678, essv9822689, essv9822656, essv9822667
Samples400937OR, 400733SW, 400171BJ, 401358VP
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575239
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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